MLASA3
MCID: MYP107
MIFTS: 28

Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 (MLASA3)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3

MalaCards integrated aliases for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3:

Name: Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 58 76 30 6
Mlasa3 58 76

Classifications:



External Ids:

OMIM 58 500011
MedGen 43 CN230751

Summaries for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3

OMIM : 58 MLASA3 is a severe mitochondrial disorder with early infantile presentation of transfusion-dependent sideroblastic anemia in the setting of failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay (summary by Burrage et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of MLASA, see MLASA1 (600462). (500011)

MalaCards based summary : Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3, also known as mlasa3, is related to periodic paralysis with later-onset distal motor neuropathy and isolated atp synthase deficiency. An important gene associated with Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 is MT-ATP6 (Mitochondrially Encoded ATP Synthase Membrane Subunit 6), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 76 Myopathy, lactic acidosis, and sideroblastic anemia 3: A rare mitochondrial disorder characterized by sideroblastic anemia, muscle weakness, and exercise intolerance associated with persistent lactic acidemia. Additional MLASA3 features are failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay.

Related Diseases for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3

Diseases in the Myopathy, Lactic Acidosis, and Sideroblastic Anemia family:

Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1
Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2

Diseases related to Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 periodic paralysis with later-onset distal motor neuropathy 10.1 MT-ATP6 MT-ATP8
2 isolated atp synthase deficiency 10.0 MT-ATP6 MT-ATP8
3 diphyllobothriasis 9.8 MT-ATP8 MT-ND3
4 leber optic atrophy and dystonia 9.7 MT-ND3 MT-ND4
5 cercarial dermatitis 9.7 MT-ATP8 MT-ND4
6 sparganosis 9.7 MT-ND3 MT-ND4
7 lactic acidosis 9.6 MT-ATP6 MT-CO3 MT-ND4
8 kearns-sayre syndrome 9.6 MT-ATP6 MT-ATP8 MT-ND4
9 optic nerve disease 9.6 MT-ATP6 MT-ND4 MT-ND4L
10 mitochondrial complex iv deficiency 9.5 MT-CO3 MT-ND4
11 mitochondrial dna depletion syndrome 1 9.5 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3
12 mitochondrial metabolism disease 9.4 MT-ATP6 MT-ND3 MT-ND4
13 mitochondrial myopathy 9.4 MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
14 deafness, nonsyndromic sensorineural, mitochondrial 9.3 MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
15 cardiomyopathy, infantile hypertrophic 9.2 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4L
16 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.0 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
17 mitochondrial encephalomyopathy 9.0 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
18 leber hereditary optic neuropathy 8.9 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
19 striatonigral degeneration, infantile 8.7 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
20 leber optic atrophy 8.7 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
21 striatonigral degeneration, infantile, mitochondrial 8.7 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
22 ataxia and polyneuropathy, adult-onset 8.7 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
23 myopathy, lactic acidosis, and sideroblastic anemia 8.7 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
24 familial colorectal cancer 8.7 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
25 leigh syndrome 8.7 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
26 retinitis pigmentosa 8.7 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L

Graphical network of the top 20 diseases related to Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3:



Diseases related to Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3

Symptoms & Phenotypes for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3

Clinical features from OMIM:

500011

Drugs & Therapeutics for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3

Search Clinical Trials , NIH Clinical Center for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3

Genetic Tests for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3

Genetic tests related to Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3:

# Genetic test Affiliating Genes
1 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 30

Anatomical Context for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3

MalaCards organs/tissues related to Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3:

42
Bone

Publications for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3

Articles related to Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3:

# Title Authors Year
1
Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene. ( 25037980 )
2014

Variations for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3:

76
# Symbol AA change Variation ID SNP ID
1 MT-ATP6 p.Ser148Asn VAR_073699 rs794726857

ClinVar genetic disease variations for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-ATP6 NC_012920.1: m.8969G> A single nucleotide variant Pathogenic rs794726857 GRCh38 Chromosome MT, 8969: 8969
2 MT-ATP6 NC_012920.1: m.8969G> A single nucleotide variant Pathogenic rs794726857 GRCh37 Chromosome MT, 8969: 8969

Expression for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3

Search GEO for disease gene expression data for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3.

Pathways for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3

GO Terms for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3

Cellular components related to Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.91 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
2 mitochondrion GO:0005739 9.76 MT-ATP8 MT-CO3 MT-ND3 MT-ND4
3 respiratory chain GO:0070469 9.5 MT-ND3 MT-ND4 MT-ND4L
4 mitochondrial respiratory chain complex I GO:0005747 9.43 MT-ND3 MT-ND4 MT-ND4L
5 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.4 MT-ATP6 MT-ATP8
6 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.37 MT-ATP6 MT-ATP8
7 mitochondrial membrane GO:0031966 9.26 MT-ATP8 MT-ND3 MT-ND4 MT-ND4L
8 NADH dehydrogenase complex GO:0030964 9.16 MT-ND3 MT-ND4L
9 mitochondrial inner membrane GO:0005743 9.02 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4

Biological processes related to Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.63 MT-ND3 MT-ND4 MT-ND4L
2 aging GO:0007568 9.48 MT-ATP6 MT-ND4
3 mitochondrial respiratory chain complex I assembly GO:0032981 9.43 MT-ND3 MT-ND4
4 aerobic respiration GO:0009060 9.4 MT-CO3 MT-ND4
5 cristae formation GO:0042407 9.37 MT-ATP6 MT-ATP8
6 ATP biosynthetic process GO:0006754 9.32 MT-ATP6 MT-ATP8
7 ATP synthesis coupled proton transport GO:0015986 9.26 MT-ATP6 MT-ATP8
8 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.16 MT-ATP6 MT-ATP8
9 ATP synthesis coupled electron transport GO:0042773 8.96 MT-ND4 MT-ND4L
10 mitochondrial electron transport, NADH to ubiquinone GO:0006120 8.8 MT-ND3 MT-ND4 MT-ND4L

Molecular functions related to Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.26 MT-ATP6 MT-ATP8
2 proton transmembrane transporter activity GO:0015078 8.96 MT-ATP6 MT-ATP8
3 oxidoreductase activity GO:0016491 8.85 MT-ND4L
4 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.8 MT-ND3 MT-ND4 MT-ND4L

Sources for Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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